Variant report

Variant	rs7122671
Chromosome Location	chr11:71144468-71144469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71137647..71140040-chr11:71141812..71145984,4	K562	blood:
2	chr11:71142709..71145080-chr11:71152155..71155719,3	K562	blood:
3	chr11:71138540..71142714-chr11:71144455..71147360,4	K562	blood:
4	chr11:71144398..71146962-chr11:71155881..71158329,2	K562	blood:

Variant related genes	Relation type
ENSG00000172893	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1002171	1.00[CEU][hapmap]
rs11233868	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12275635	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12275636	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12277408	1.00[CEU][hapmap]
rs12286569	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs12286616	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs12288906	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs12289036	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs12289074	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap]
rs12289358	0.81[ASN][1000 genomes]
rs12573951	0.92[EUR][1000 genomes]
rs12574206	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12575605	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs12576621	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs12577807	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs17161576	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs1893058	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs2298776	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap]
rs3794062	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3794064	1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs3814733	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4316537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57500217	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs59379414	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs59487812	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7114525	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7120978	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7121106	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7129044	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7929042	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7952035	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv518163	chr11:71142350-71155153	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71135000-71150600	Weak transcription	NH-A	brain
2	chr11:71135400-71145000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:71137000-71144800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:71137200-71145000	Weak transcription	Brain Germinal Matrix	brain
5	chr11:71137200-71149600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:71137600-71146000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:71138000-71144800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:71138000-71145200	Weak transcription	HMEC	breast
9	chr11:71139200-71145000	Weak transcription	GM12878-XiMat	blood
10	chr11:71139200-71145800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:71139400-71145000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr11:71139600-71145200	Enhancers	Ovary	ovary
13	chr11:71140400-71145000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:71140600-71144600	Weak transcription	Right Ventricle	heart
15	chr11:71140600-71158200	Weak transcription	Fetal Brain Male	brain
16	chr11:71140800-71144800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:71140800-71145800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:71140800-71154000	Weak transcription	Fetal Lung	lung
19	chr11:71140800-71154000	Weak transcription	HSMM	muscle
20	chr11:71141000-71145800	Weak transcription	HSMMtube	muscle
21	chr11:71141200-71148200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:71141600-71144600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:71141600-71144800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:71141600-71145000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:71141600-71145200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:71141800-71144800	Weak transcription	Fetal Stomach	stomach
27	chr11:71141800-71145800	Enhancers	Liver	Liver
28	chr11:71142000-71144800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:71142400-71144800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr11:71142400-71145400	Enhancers	Right Atrium	heart
31	chr11:71142400-71145600	Enhancers	Brain Hippocampus Middle	brain
32	chr11:71142400-71145800	Weak transcription	NHLF	lung
33	chr11:71142400-71146800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:71142600-71144800	Enhancers	Fetal Intestine Small	intestine
35	chr11:71142600-71146000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:71142600-71146000	Weak transcription	Thymus	Thymus
37	chr11:71142800-71144600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:71142800-71144800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:71142800-71147800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:71143000-71144800	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr11:71143000-71145200	Enhancers	Adipose Nuclei	Adipose
42	chr11:71143000-71145200	Enhancers	Fetal Intestine Large	intestine
43	chr11:71143000-71145600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:71143000-71145800	Enhancers	Brain Anterior Caudate	brain
45	chr11:71143000-71148200	Weak transcription	NHDF-Ad	bronchial
46	chr11:71143000-71148400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:71143000-71150600	Weak transcription	Osteobl	bone
48	chr11:71143200-71144800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:71143200-71144800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:71143200-71145200	Weak transcription	H1 Cell Line	embryonic stem cell

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